Spondyloepimetaphyseal dyspasia with joint laxity (SEMDJL)BEIGHTON, P.Journal of medical genetics. 1994, Vol 31, Num 2, pp 136-140, issn 0022-2593Conference Paper

British medical genetics conferenceJournal of medical genetics. 1994, Vol 31, Num 2, pp 162-175, issn 0022-2593Conference Proceedings

The molecular basis of genetic dominanceWILKIE, A. O. M.Journal of medical genetics. 1994, Vol 31, Num 2, pp 89-98, issn 0022-2593Conference Paper

Leber's hereditary optic neuropathy : the clinical relevance of different mitochondrial DNA mutationsRIORDAN-EVA, P; HARDING, A. E.Journal of medical genetics. 1995, Vol 32, Num 2, pp 81-87, issn 0022-2593Conference Paper

Hydrocephalus in an infant with trisomy 22FAHMI, F; SCHMERLER, S; HUTCHEON, R. G et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 141-144, issn 0022-2593Conference Paper

Cowden syndromeHANSSEN, A. M. N; FRYNS, J. P.Journal of medical genetics. 1995, Vol 32, Num 2, pp 117-119, issn 0022-2593Conference Paper

DNA methylation based testing of 450 patients suspected of having Prader-Willi syndromeGILLESSEN-KAESBACH, G; GROSS, S; KAYA-WESTERLOH, S et al.Journal of medical genetics. 1995, Vol 32, Num 2, pp 88-92, issn 0022-2593Conference Paper

Paternal pericentric inversion of chromosome 4 as a cause of recurrent pregnancy lossWOLF, G. C; MAO, J; IZQUIERDO, L et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 153-155, issn 0022-2593Conference Paper

Partial trisomy 3q causing mild Cornelia de Lange phenotypeHOLDER, S. E; GRIMSLEY, L. M; PALMER, R. W et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 150-152, issn 0022-2593Conference Paper

Recurrence of Pallister-Hall syndrome in two sibsTHOMAS, H. M; TODD, P. J; HEAF, D et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 145-147, issn 0022-2593Conference Paper

Facial clefts in the west of Scotland in the period 1980-1984 : epidemiology and genetic diagnosesFITZPATRICK, D. R; MAINE, P. A. M; BOORMAN, J. G et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 126-129, issn 0022-2593Conference Paper

Origin of a regressed myotonic dystrophy alleleGIORDANO, M; DE ANGELIS, M. S; MUTANI, R et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 130-132, issn 0022-2593Conference Paper

Modification of standard proteinase K/phenol method for DNA isolation to improve yield and purity from frozen bloodNILOFER NINA AHMAD; CU-UNJIENG, A. B; DONOSO, L. A et al.Journal of medical genetics. 1995, Vol 32, Num 2, pp 129-130, issn 0022-2593Conference Paper

Pallister-Hall syndrome and McKusick-Kaufmann syndrome : one entity ?UNSINN, K. M; NEU, N; KREJCI, A et al.Journal of medical genetics. 1995, Vol 32, Num 2, pp 125-128, issn 0022-2593Conference Paper

Microcephaly and congenital nephrotic syndrome owing to diffuse mesangial sclerosis : an autosomal recessive syndromeBEN ZION GARTY; EISENSTEIN, B; SANDBANK, J et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 121-125, issn 0022-2593Conference Paper

Acute myeloid leukaemia in a patient with Seckel syndromeHAYANI, A; SUAREZ, C. R; MOLNAR, Z et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 148-149, issn 0022-2593Conference Paper

Recurrence risk for germinal mosaics revisitedVAN DER MEULEN, M. A; VAN DER MEULEN, M. J. P; TE MEERMAN, G. J et al.Journal of medical genetics. 1995, Vol 32, Num 2, pp 102-104, issn 0022-2593Conference Paper

Cholinesterase variants : rapid characterisation by PCR/SSCP and evidence for molecular homogeneityHÖHLER, T; HUNDT, M; RITTNER, C et al.Journal of medical genetics. 1995, Vol 32, Num 2, pp 109-112, issn 0022-2593Conference Paper

Linkage disequilibrium between FD1-D9S202 haplotypes and the Friedreich's ataxia locus in a central-southern Italian populationPIANESE, L; COCOZZA, S; VARRONE, S et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 133-135, issn 0022-2593Conference Paper

Diagnosis of adult polycystic kidney disease by genetic markers and ultrasonographic imaging in a voluntary family registerELLES, R. G; HODGKINSON, K. A; MALLICK, N. P et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 115-120, issn 0022-2593Conference Paper

Genomic rearrangements in childhood spinal muscular atrophy : linkage disequilibrium with a null alleleDANIELS, R. J; CAMPBELL, L; RODRIGUES, N. R et al.Journal of medical genetics. 1995, Vol 32, Num 2, pp 93-96, issn 0022-2593Conference Paper

Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities : role of X inactivationCALLEN, D. F; EYRE, H. J; DOLMAN, G et al.Journal of medical genetics. 1995, Vol 32, Num 2, pp 113-116, issn 0022-2593Conference Paper

Mosaicism with a normal cell line and an autosomal structural rearrangementGARDNER, R. J. M; DOCKERY, H. E; FITZGERALD, P. H et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 108-114, issn 0022-2593Conference Paper

Pseudodicentric chromosome 18 diagnosed by chromosome painting and primed in situ labelling (PRINS)BRANDT, C. A; DJERNES, B; STRØMKJÆER, H et al.Journal of medical genetics. 1994, Vol 31, Num 2, pp 99-102, issn 0022-2593Conference Paper

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